Linked Data
dbSNP Id:
rs1406951464
gnomAD v2:
6-10529641-GGCTCCAGGCTGACCTGAACT-G
gnomAD v4:
6-10529408-GGCTCCAGGCTGACCTGAACT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10529411_10529430del , CM000668.2:g.10529411_10529430del | GRCh38 |
| NC_000006.11:g.10529644_10529663del , CM000668.1:g.10529644_10529663del | GRCh37 |
| NC_000006.10:g.10637630_10637649del | NCBI36 |
| NG_007469.3:g.42189_42208del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397423.7:n.484+570_484+589del | ||
| ENST00000495262.7:c.500_519del MANE Select | ENSP00000419411.2:p.Leu167ProfsTer8 | |
| ENST00000379597.7:c.500_519del | ENSP00000368917.3:p.Leu167ProfsTer8 | |
| ENST00000397423.6:n.484+570_484+589del | ||
| ENST00000410107.5:c.67+20253_67+20272del | ENSP00000386321.1:n.67+20253_67+20272del | |
| ENST00000474518.1:n.508+570_508+589del | ||
| ENST00000474983.5:n.1077_1096del | ||
| ENST00000475577.5:n.254+1751_254+1770del | ||
| ENST00000483204.1:n.1076_1095del | ||
| ENST00000489225.5:n.283+36480_283+36499del | ||
| ENST00000489819.5:n.175+7817_175+7836del | ||
| ENST00000495262.5:c.500_519del | ENSP00000419411.1:p.Leu167ProfsTer8 | |
| NM_145649.4:c.500_519del | NP_663624.1:p.Leu167ProfsTer8 | |
| XM_005248999.2:c.269_288del | XP_005249056.1:p.Leu90ProfsTer8 | |
| XM_006715052.2:c.500_519del | XP_006715115.1:p.Leu167ProfsTer8 | |
| XM_006715053.2:c.500_519del | XP_006715116.1:p.Leu167ProfsTer8 | |
| XM_011514465.1:c.500_519del | XP_011512767.1:p.Leu167ProfsTer8 | |
| XM_011514467.1:c.269_288del | XP_011512769.1:p.Leu90ProfsTer8 | |
| XM_011514468.1:c.500_519del | XP_011512770.1:p.Leu167ProfsTer8 | |
| XR_926136.1:n.1051_1070del | ||
| XM_006715052.3:c.500_519del | XP_006715115.1:p.Leu167ProfsTer8 | |
| XM_011514468.3:c.500_519del | XP_011512770.1:p.Leu167ProfsTer8 | |
| XM_017010732.2:c.500_519del | XP_016866221.1:p.Leu167ProfsTer8 | |
| XR_002956275.1:n.1051_1070del | ||
| XR_926136.2:n.1049_1068del | ||
| NM_001374747.1:c.500_519del | NP_001361676.1:p.Leu167ProfsTer8 | |
| NM_145649.5:c.500_519del MANE Select | NP_663624.1:p.Leu167ProfsTer8 |